Canonical Allele Identifier: CA358782773

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358615T>A (hg19) ; chr4:g.177437461T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437461T>A , CM000666.2:g.177437461T>A	GRCh38
NC_000004.11:g.178358615T>A , CM000666.1:g.178358615T>A	GRCh37
NC_000004.10:g.178595609T>A	NCBI36
NG_011845.2:g.10043A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.566A>T MANE Select	ENSP00000264595.2:p.Lys189Met
ENST00000264595.6:c.566A>T	ENSP00000264595.2:p.Lys189Met
ENST00000502310.5:c.221A>T	ENSP00000423798.1:p.Lys74Met
ENST00000506853.5:n.600A>T
ENST00000510635.1:c.262A>T
ENST00000510955.5:n.487A>T
NM_000027.3:c.566A>T	NP_000018.2:p.Lys189Met
NM_001171988.1:c.566A>T	NP_001165459.1:p.Lys189Met
NR_033655.1:n.694A>T
XM_006714123.2:c.566A>T	XP_006714186.1:p.Lys189Met
XR_001741155.2:n.660A>T
NM_000027.4:c.566A>T MANE Select	NP_000018.2:p.Lys189Met
NM_001171988.2:c.566A>T	NP_001165459.1:p.Lys189Met
NR_033655.2:n.628A>T